中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2012年
8期
557-560
,共4页
鲁向辉%蒲传强%黄旭升%刘洁晓%毛燕玲
魯嚮輝%蒲傳彊%黃旭升%劉潔曉%毛燕玲
로향휘%포전강%황욱승%류길효%모연령
肌疾病%肌营养不良,眼咽%包涵体%Poly(A)结合蛋白质Ⅱ
肌疾病%肌營養不良,眼嚥%包涵體%Poly(A)結閤蛋白質Ⅱ
기질병%기영양불량,안인%포함체%Poly(A)결합단백질Ⅱ
Muscular diseases% Muscular dystrophy,oculopharyngeal% Inclusion bodies%Poly(A) -binding protein Ⅱ
目的 探讨2个眼咽型远端型肌病(OPDM)家系的临床、病理及分子生物学特点.方法 对2个家系的先证者行血清肌酶、肌电图、肌肉活体组织检查、肌肉酶组织染色及电镜分析,并于复诊时提取其静脉血DNA样本,进一步行编码多聚腺苷酸结合蛋白核1(PABPN1)、GNE基因突变分析.结果 家系1为同代3兄弟发病,家系2为2代4人发病.起病以发音困难伴双下肢无力居多;以发音及吞咽困难为表现的咽部肌群受累较突出.肌肉超微结构电镜分析未见到眼咽型肌营养不良样核内包涵体,2家系先证者PABPN1基因GCN重复拷贝数均为正常(10次,GCG6GCA3GCG1),且GNE基因2~12号外显子均未发现突变.结论 2个OPDM家系起病年龄、形式与日本患者类似,但肌肉受累方式有所不同.家系1为中国首个常染色体隐性遗传OPDM家系.本研究结果证实OPDM是一个表型、病理、遗传学独立的肌病实体.
目的 探討2箇眼嚥型遠耑型肌病(OPDM)傢繫的臨床、病理及分子生物學特點.方法 對2箇傢繫的先證者行血清肌酶、肌電圖、肌肉活體組織檢查、肌肉酶組織染色及電鏡分析,併于複診時提取其靜脈血DNA樣本,進一步行編碼多聚腺苷痠結閤蛋白覈1(PABPN1)、GNE基因突變分析.結果 傢繫1為同代3兄弟髮病,傢繫2為2代4人髮病.起病以髮音睏難伴雙下肢無力居多;以髮音及吞嚥睏難為錶現的嚥部肌群受纍較突齣.肌肉超微結構電鏡分析未見到眼嚥型肌營養不良樣覈內包涵體,2傢繫先證者PABPN1基因GCN重複拷貝數均為正常(10次,GCG6GCA3GCG1),且GNE基因2~12號外顯子均未髮現突變.結論 2箇OPDM傢繫起病年齡、形式與日本患者類似,但肌肉受纍方式有所不同.傢繫1為中國首箇常染色體隱性遺傳OPDM傢繫.本研究結果證實OPDM是一箇錶型、病理、遺傳學獨立的肌病實體.
목적 탐토2개안인형원단형기병(OPDM)가계적림상、병리급분자생물학특점.방법 대2개가계적선증자행혈청기매、기전도、기육활체조직검사、기육매조직염색급전경분석,병우복진시제취기정맥혈DNA양본,진일보행편마다취선감산결합단백핵1(PABPN1)、GNE기인돌변분석.결과 가계1위동대3형제발병,가계2위2대4인발병.기병이발음곤난반쌍하지무력거다;이발음급탄인곤난위표현적인부기군수루교돌출.기육초미결구전경분석미견도안인형기영양불량양핵내포함체,2가계선증자PABPN1기인GCN중복고패수균위정상(10차,GCG6GCA3GCG1),차GNE기인2~12호외현자균미발현돌변.결론 2개OPDM가계기병년령、형식여일본환자유사,단기육수루방식유소불동.가계1위중국수개상염색체은성유전OPDM가계.본연구결과증실OPDM시일개표형、병리、유전학독립적기병실체.
Objective To investigate the clinical,myopathological and molecular changes in two Chinese families with oculopharyngodistal myopathy ( OPDM).Methods We performed muscle biopsy and histopathologic study on the probands of two families,and further examined molecular genetic testing on PABPN1 and GNE gene. Results Family 1 included 3 affected brothers in the same generation and family 2 involved 4 patients in 2 generations. Dysarthria rather than external ophthalmoplegia was the prominent oculopharyngeal symptoms for Chinese patients. No intranuclear inclusions were observed in ultrastructural examination.The number of GCG repeats in the PABPN1 gene was within normal range and no mutations were identified in the GNE gene.Conclusions Family 1 is the first publication on autosomal recessive OPDM in China.The age of onset of two families was comparable with Japanese patients and the pattern of muscle involvement was different. OPDM is a distinct phenotypical,histological,and genetic entity.